Evidence map›Paper›PMID 39796280›Full record

ArticleInternational journal of molecular sciences2025

Whole-Exome Sequencing: Discovering Genetic Causes of Granulomatous Mastitis.

Beyza Ozcinar, Zeynep Ocak, Deryanaz Billur, Baris Ertugrul, Ozlem Timirci-Kahraman

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Review
  4. NovelTherapeutic advances in respiratory disease
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

5 authors.

Beyza OzcinarDepartment of General Surgery, Istanbul Medical Faculty, Istanbul University, 34093 Istanbul, Türkiye.ORCID 0000-0002-2385-141X
Zeynep OcakDepartment of Medical Genetics, Medical Faculty, Istinye University, 34396 Istanbul, Türkiye.ORCID 0000-0002-5954-5086
Deryanaz BillurDepartment of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, 34093 Istanbul, Türkiye.ORCID 0000-0002-6079-8224
Baris ErtugrulDepartment of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, 34093 Istanbul, Türkiye.ORCID 0000-0003-3878-1829
Ozlem Timirci-KahramanDepartment of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, 34093 Istanbul, Türkiye.ORCID 0000-0002-2641-5613

Funding

Istanbul University Scientific Research Project Office 38474
6 · The paper itself

Abstract

Granulomatous mastitis (GM) is a rare, benign, but chronic and recurrent inflammatory breast disease that significantly impacts physical and psychological well-being. It often presents symptoms such as pain, swelling, and discharge, leading to diagnostic confusion with malignancy. The etiology of GM remains unclear, though autoimmune and multifactorial components are suspected. This study aimed to explore the genetic underpinnings of GM using whole-exome sequencing (WES) on 22 GM patients and 52 healthy controls to identify single nucleotide variants (SNVs) and copy number variations (CNVs) potentially linked to the disease. WES analysis revealed novel SNVs in six genes:

Indexed as

Exome SequencingGenetic Predisposition to DiseaseGranulomatous MastitisAdultCase-Control StudiesDNA Copy Number VariationsFemaleHumansMiddle AgedPolymorphism, Single Nucleotideautoimmune diseasegenetic variantsgranulomatous mastitisinflammationwhole-exome sequencing

Identifiers

PMID39796280
PMCPMC11721990

What Socratic holds

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LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.